title: A case of familial X-linked thrombocytopenia with a novel WAS gene mutation.
abstract: Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs(*)21) as a hemizygous form.
authors.affiliation: Department of Pediatrics, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Eu Kyoung
authors.initials: EK
authors.lastname: Lee
authors.forename: Yeun-Joo
authors.initials: YJ
authors.lastname: Eem
authors.forename: Nack-Gyun
authors.initials: NG
authors.lastname: Chung
authors.forename: Myung Shin
authors.initials: MS
authors.lastname: Kim
authors.forename: Dae Chul
authors.initials: DC
authors.lastname: Jeong
keywords: Mutation; Sequence deletion; Wiskott-Aldrich syndrome